Canonical Allele Identifier: CA597089965
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1261455508
gnomAD v2: 11-2193054-C-T
gnomAD v4: 11-2171824-C-T
MyVariant Identifiers: chr11:g.2193054C>T (hg19) chr11:g.2171824C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171824C>T , CM000673.2:g.2171824C>T GRCh38
NC_000011.9:g.2193054C>T , CM000673.1:g.2193054C>T GRCh37
NC_000011.8:g.2149630C>T NCBI36
NG_008128.1:g.4982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-38G>A ENSP00000325951.3:n.-38G>A
XM_011520335.1:c.-38G>A XP_011518637.1:n.-38G>A
XM_011520335.2:c.-38G>A XP_011518637.1:n.-38G>A
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